Homo sapiens Gene: PC
Summary
InnateDB Gene IDBG-59727.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PC
Gene Name pyruvate carboxylase
Synonyms PCB;
Species Homo sapiens
Ensembl Gene ENSG00000173599
Encoded Proteins
pyruvate carboxylase
pyruvate carboxylase
pyruvate carboxylase
pyruvate carboxylase
pyruvate carboxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5\' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:66848233-66958376
Strand Reverse strand
Band q13.2
Transcripts
ENST00000393960 ENSP00000377532
ENST00000393958 ENSP00000377530
ENST00000393955 ENSP00000377527
ENST00000529047 ENSP00000435905
ENST00000528224
ENST00000529352
ENST00000530259
ENST00000530187
ENST00000524491 ENSP00000434192
ENST00000531614
ENST00000528403
ENST00000534194
ENST00000525476
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 22 [view]
Protein-Protein 21 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003824 catalytic activity
GO:0004075 biotin carboxylase activity
GO:0004736 pyruvate carboxylase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008716 D-alanine-D-alanine ligase activity
GO:0009374 biotin binding
GO:0016874 ligase activity
GO:0031406 carboxylic acid binding
GO:0046872 metal ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006090 pyruvate metabolic process
GO:0006094 gluconeogenesis
GO:0006107 oxaloacetate metabolic process
GO:0006629 lipid metabolic process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006768 biotin metabolic process
GO:0008152 metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Myoclonic epilepsy of Lafora pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Metabolism of carbohydrates pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Gluconeogenesis pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Biotin transport and metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
Metabolism of vitamins and cofactors pathway
KEGG
Citrate cycle (TCA cycle) pathway
Pyruvate metabolism pathway
INOH
Alanine Aspartate Asparagine metabolism pathway
Citrate cycle pathway
Glycolysis Gluconeogenesis pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P11498
TrEMBL A0A024R5C5 E9PS68
UniProt Splice Variant
Entrez Gene 5091
UniGene Hs.89890
RefSeq NM_022172 XM_005274031 XM_006718578 XM_006718579 NM_001040716 NM_000920 XM_005274032 XM_006718577
HUGO HGNC:8636
OMIM 608786
CCDS CCDS8152
HPRD 02032
IMGT
EMBL AP000485 AP003176 BC011617 CH471076 K02282 M26122 S72370 U04641 U30891
GenPept AAA36423 AAA60033 AAA82937 AAA99537 AAB31500 AAH11617 EAW74568 EAW74569 EAW74570 EAW74571 EAW74572
RNA Seq Atlas 5091